ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile)

gnomAD frequency: 0.00005  dbSNP: rs764515953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544346 SCV000640042 uncertain significance Oculofaciocardiodental syndrome 2017-04-18 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 594 of the BCOR protein (p.Val594Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs764515953, ExAC 0.03%) but has not been reported in the literature in individuals with a BCOR-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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